2021
Single-cell RNA-seq unravels alterations of the human spermatogonial stem cell compartment in patients with impaired spermatogenesis.
Di Persio S, Tekath T, Siebert-Kuss LM, Cremers JF, Wistuba J, Li X, Meyer zu Hörste G, Drexler HCA, Wyrwoll MJ, Tüttelmann F, Dugas M, Kliesch S, Schlatt S, Laurentino S, Neuhaus N
Cell Reports Medicine, 2021
Link to the publication.A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston B, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Human Reproduction Update, 2021
Preprint - medRxiv, 2021
Link to the publication and preprint.
Can unlikely neanderthal chloride channel CLC-2 gene variants provide insights in modern human infertility?
Jeworutzki E, Tüttelmann F, Rothenberg I, Pusch M, Schreiber JA, Kliesch S, Wünsch B, Strutz-Seebohm N, Seebohm G
Cellular Physiology and Biochemistry, 2021
Link to the publication.TRIM71 deficiency causes germ cell loss during mouse embryogenesis and is associated with human male infertility.
Torres-Fernández LA, Emich J, Port Y, Mitschka S, Wöste M, Schneider S, Fietz D, Oud MS, Di Persio S, Neuhaus N, Kliesch S, Hölzel M, Schorle H, Friedrich C, Tüttelmann F, Kolanus W
Frontiers in Cell and Developmental Biology, 2021
Link to the publication.
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.
Hardy J, Wyrwoll MJ, Mcfadden W, Malcher A, Rotte N, Pollock NC, Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Laan M, Kliesch S, Schlegel P, Jaffe T, Hwang K, Vukina J, GEMINI Consortium, Brieño-Enríquez MA, Orwig K, Yanowitz J, Buszczak M, Veltman JA, Oud M, Nagirnaja L, Olszewska M, O'Bryan MK, Conrad DF, Kurpisz M, Tüttelmann F, Yatsenko AN
Human Genetics, 2021
Link to the publication.
Lack of evidence for a role of PIWIL1 variants in human male infertility.
Oud MS, Volozonoka L, Friedrich C, Kliesch S, Nagirnaja L, Gilissen C, O'Bryan MK, McLachlan RI, Aston KI, Tüttelmann F, Conrad DF, Veltman JA
Cell, 2021
Link to the publication.
A global approach to addressing the policy, research and social challenges of male reproductive health.
Barratt CLR, De Jonge CJ, Anderson RA, Eisenberg ML, Garrido N, Rautakallio-Hokkanen S, Krausz C, Kimmins S, O'Bryan MK, Pacey AA, Tüttelmann F, Veltman JA
Human Reproduction Open, 2021
Link to the publication.
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Goncalves J, Boyden SE, Wöste M, Hotaling JM, GEMINI Consortium, Nagirnaja L, Conrad DF, Carrell DT, Aston KI
Human Genetics, 2021
Link to the publication.
Pituitary response to GnRH stimulation tests in different FSHB-211 G/T genotypes.
Sansone A, Schubert M, Tüttelmann F, Krallmann C, Zitzmann M, Kliesch S, Gromoll J
Human Reproduction, 2021
Link to the publication.
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
Aprea I, Raidt J, Höben IM, Loges NT, Nöthe-Menchen T, Pennekamp P, Olbrich H, Kaiser T, Biebach L, Tüttelmann F, Horvath J, Schubert M, Krallmann C, Kliesch S, Omran H
PLoS Genetics, 2021
Link to the publication.
Healthy ageing and spermatogenesis
Pohl E, Gromoll J, Wistuba J, Laurentino S
Reproduction, 2021
Link to the publication.
2020
Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.
Rudnik-Schöneborn S, Messner M, Vockel M, Wirleitner B, Pinggera GM, Witsch-Baumgartner M, Murtinger M, Kliesch S, Swoboda M, Sänger N, Zschocke J, Tüttelmann F
Human Reproduction, 2020
Link to the publication.
A novel xeno-organoid approach: exploring the crosstalk between human iPSC-derived PGC-like and rat testicular cells.
Mall EM, Rotte N, Yoon J, Sandhowe-Klaverkamp R, Röpke A, Wistuba J, Hübner K, Schöler HR, Schlatt S
Molecular Human Reproduction, 2020
Link to the publication.
European Academy of Andrology guidelines on Klinefelter syndrome: endorsing organization: European Society of Endocrinology.
Zitzmann M, Aksglaede L, Corona G, Isidori AM, Juul A, T'Sjoen G, Kliesch S, D'Hauwers K, Toppari J, Słowikowska-Hilczer J, Tüttelmann F, Ferlin A
Andrology, 2020
Link to the publication.
A germ cell‐specific ageing pattern in otherwise healthy men.
Laurentino S, Cremers J-F, Horsthemke B, Tüttelmann F, Czeloth K, Zitzmann M, Pohl E, Rahmann S, Schröder C, Berres S, Redmann K, Krallmann C, Schlatt S, Kliesch S, Gromoll J
Aging Cell, 2020
Link to the publication.
Testicular blood supply is altered in the 41,XX Y* Klinefelter syndrome mouse model.
Wistuba J, Beumer C, Warmeling A-S, Sanhowe-Klaverkamp R, Stypmann J, Kuhlmann M, Holtmeier R, Damm OS, Tüttelmann F, Gromoll J
Scientific Reports, 2020
Link to the publication.
The Male Fertility Gene Atlas: a web tool for collecting and integrating OMICs data in the context of male infertility.
Krenz H, Gromoll J, Darde T, Chalmel F, Dugas M, Tüttelmann F
Human Reproduction, 2020
Preprint - medRxiv, 2020
Link to the publication and preprint.
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé, Aston KI, Baarends WM, Tüttelmann F
Genetics in Medicine, 2020
Link to the publication.
The Ca2+ channel CatSper is not activated by cAMP/PKA signaling but directly affected by chemicals used to probe the action of cAMP and PKA.
Wang T, Young S, Krenz H, Tüttelmann F, Röpke A, Krallmann C, Kliesch S, Zeng XH, Brenker C, Strünker T
The Journal of Biological Chemistry, 2020
Preprint - bioRxiv, 2020
Link to the publication and preprint.
Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired Sspermatogenesis leading to male infertility.
Wyrwoll MJ, Temel SG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Wöste M, Ledig S, Krenz H, Smits RM, Carvalho F, Gonçalves J, Fietz D, Türgenç B, Ergören MC, Çetinkaya M, Başar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Röpke A, Dugas M, Kliesch S, Neuhaus N, GEMINI Consortium, Aston KI, Conrad DF, Vetlman JA, Friedrich C, Tüttelmann F
American Journal of Human Genetics, 2020
Preprint - bioRxiv, 2019
Link to the publication and preprint.
Andrological diagnostics prior to treatment by assisted reproduction.
Köhn FM, Kliesch S, Pinggera GM, Schuppe HC, Tüttelmann F
Der Urologe, 2020
Link to the publication.
SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility.
Schilit SLP, Menon S, Friedrich C, Kammin T, Wilch E, Hanscom C, Jiang S, Kliesch S, Talkowski ME, Tüttelmann F, MacQueen AJ, Morton CC
American Journal of Human Genetics, 2020
Link to the publication.
Rotational motion and rheotaxis of human sperm do not require functional CatSper channels and transmembrane Ca2+ signaling.
Schiffer C, Rieger S, Brenker C, Young S, Hamzeh H, Wachten D, Tüttelmann F, Röpke A, Kaupp U, Wang T, Wagner A, Krallmann C, Kliesch S, Fallnich C, Strünker T
EMBO Journal, 2020
Link to the publication.Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes.
Fenz Araujo T, Friedrich C, Paiva Grangeiro CH, Martelli LR, Grzesiuk JG, Emich J, Wyrwoll MJ, Kliesch SK, Simões AL, Tüttelmann F
Andrology, 2020
Link to the publication.
2019
The ReproGenomics Viewer: a mulit-omics and cross-species resource compatible with single-cell studies for the reproductive science community.
Darde TA, Lecluze E, Lardenois A, Stévant I, Alary N, Tüttelmann F, Collin O, Nel S, Jégou B, Rolland D, Chalmel F
Bioinformatics, 2019
Link to the publication.Diagnosis and treatment before assisted reproducive treatments. Guideline of the DGGG, OEGGG and SGGG - Part 1: Basic assessment of the woman.
Toth B, Baston-Büst DM, Behre HM, Bielfeld A, Bohlmann M, Bühling K, Dittrich R, Göoeckenjan M, Hancke K, Kliesch S, Köhn FM, Krüssel J, Kuon R, Liebenthron J, Nawroth F, Nordhoff V, Pinggera GM, Rogenhofer N, Rudnik-Schöneborn S, Schuppe HC, Schüring A, Seifert-Klauss V, Strowitzki T, Tüttelmann F, Vomstein K, Wildt L, Wischmann T, Wunder D, Zschoke J
Geburtshilfe und Frauenheilkunde, 2019
Link to the publication.Diagnosis and treatment before assisted reproducive treatments. Guideline of the DGGG, OEGGG and SGGG - Part 2: Hemostaseology, andrology, genetics and history of malignant disease.
Toth B, Baston-Büst DM, Behre HM, Bielfeld A, Bohlmann M, Bühling K, Dittrich R, Göoeckenjan M, Hancke K, Kliesch S, Köhn FM, Krüssel J, Kuon R, Liebenthron J, Nawroth F, Nordhoff V, Pinggera GM, Rogenhofer N, Rudnik-Schöneborn S, Schuppe HC, Schüring A, Seifert-Klauss V, Strowitzki T, Tüttelmann F, Vomstein K, Wildt L, Wischmann T, Wunder D, Zschoke J
Geburtshilfe und Frauenheilkunde, 2019
Link to the publication.Infertility due to azoospermia: differential diagnosis, genetic aspects, histopathology of the testis, and surgical sperm retrieval.
Schuppe HC, Pilatz A, Fietz D, Diemer T, Kohn FM, Tüttelmann F, Kliesch S
Gynäkologische Endokrinologie, 2019
Link to the publication.Andrological diagnostics prior to treatment by assisted reproduction.
Köhn FM, Kliesch S, Pinggera GM, Schuppe HC, Tüttelmann F
Gynäkologische Endokrinologie, 2019
Link to the publication.The X chromosome and male infertility.
Vockel M, Riera-Escamilla A, Tüttelmann F, Krausz C
Human Genetics, 2019
Link to the publication.Mutations in the stromal antigen 3 (STAG3) gene cause male infertility due to meiotic arrest.
van der Bijl N, Röpke A, Biswas U, Wöste M, Jessberger R, Kliesch S, Friedrich C, Tüttelmann F
Human Reproduction, 2019
Link to the publication.The FSHB -211 G>T polymorphism as predictor for TESE success in patients with unexplained azoospermia.
Busch AS, Tüttelmann F, Cremers JF, Schubert M, Nordhoff V, Schüring AN, Zitzmann M, Gromoll JG, Kliesch S
Journal of Clinical Endocrinology and Metabolism, 2019
Link to the publication.2018
Is the FSHR 2039A>G variant associated with susceptibility to testicular germ cell cancer?
Bang AK, Busch AS, Almstrup K, Gromoll J, Kliesch S, Rajpert-De Meyts E, Skakkebaek NE, Juul A, Tüttelmann F, Jørgengsen N
Andrology, 2018
Link to the publication.Interest in, willingsness-to-pay for an willingness-to-recommend genetic testing for prostate cancer among affected men after radical prostatectomy.
Mayer M, Selig K, Tüttelmann F, Dinkel A, Gschwend JE, Herkommer K
Familial Cancer, 2018
Link to the publication.Disorders of spermatogenesis: perspectives for novel genetic diagnostics after 20 years of unchanged routine.
Tüttelmann F, Ruckert C, Röpke A
Medizinische Genetik, 2018
Link to the publication.Action of steroids and plant triterpenoids on CatSper Ca2+ channels in human sperm.
Brenker C, Schiffer C, Wagner IV, Tüttelmann F, Röpke F, Rennhack A, Kaupp UB and Strünker T
PNAS, 2018
Link to the publication.2017
A no-stop mutation in MAGEB4 is a possible cause of rare Xlinked azoospermia and oligozoospermia in a consanguineous Turkish family.
Okutman O, Muller J, Skory V, Garnier JM, Gaucherot A, Baert Y, Lamour V, Serdarogullari M, Gultomruk M, Röpke A, Kliesch S, Herbepin V, Aknin I, Benkhalifa M, Teletin M, Bakircioglu E, Goossens E, CharletBerguerand N, Bahceci M, Tüttelmann F, Viville S
Journal of Assisted Reproduction and Genetics, 2017
Link to the publication.Aberrations of the X chromosome as cause of male infertility.
Röpke A, Tüttelmann F
European Journal of Endocrinology, 2017
Link to the publication.2016
The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.
Borgmann J, Tüttelmann F, Dworniczak B, Röpke A, Song HW, Kliesch S, Wilkinson MF, Laurentio S, Gromoll J
Human Molecular Genetics, 2016
Link to the publication.Social freezing – the male perspective.
Gromoll J, Tüttelmann F, Kliesch S
Urologe, 2016
Link to the publication.2015
FSHB-211G>T stratification for follicle-stimulating hormone treatment of male infertility patients: making the case for a pharmacogenetic approach in genetic functional secondary hypogonadism.
Busch AS, Kliesch S, Tüttelmann F, Gromoll J
Andrology, 2015
Link to the publication.Azoospermia and ring chromosome 9-a case report.
Laursen RJ, Tüttelmann F, Humaidan P, Elbæk HO, Alsbjerg B, Röpke A
Journal of Assisted Reproduction and Genetics, 2015
Link to the publication.The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome.
Busch AS, Tüttelmann F, Zitzmann M, Kliesch S, Gromoll J
European Journal of Human Genetis, 2015
Link to the publication.X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.
Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe T, Olszewska M, Westernströer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko S, Kliesch S, Schlatt St, Tüttelmann F
New England Journal of Medicine, 2015
Link to the publication.
